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GGTCTCCTCTGACACCAGCTCTGCC[A/T]CTTCCATCACCCCTTCCTCAGCCGG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 137250 MIM: 600947 | ||||||||||||||||||||
Literature Links: |
GAST PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
GAST - gastrin | ||||||
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There are no transcripts associated with this gene. |
HAP1 - huntingtin associated protein 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001079870.1 | 1523 | Missense Mutation | GAG,GTG | E,V 512 | NP_001073339.1 | |
NM_001079871.1 | 1523 | Missense Mutation | GAG,GTG | E,V 504 | NP_001073340.1 | |
NM_177977.2 | 1523 | Missense Mutation | GAG,GTG | E,V 529 | NP_817084.2 |